title: Multiple recurrent mutations at four human Y-chromosomal single nucleotide polymorphism sites in a 37 bp sequence tract on the ARSDP1 pseudogene.
abstract: The male-specific region of the human Y chromosome (MSY) is passed down clonally from father to son and mutation is the single driving force for Y-chromosomal diversification. The geographical distribution of MSY variation is non-random. Therefore, Y-chromosomal single nucleotide polymorphisms (Y-SNPs) are of forensic interest, as they can be utilized, e.g. for deducing the bio-geographical origin of biological evidence. This extra information can complement short tandem repeat data in criminal investigations. For forensic applications, however, any targeted marker has to be unequivocally interpretable. Here, we report findings for 17 samples from a population study comprising specimens from ∼3700 men living in Tyrol (Austria), indicating apparent homoplasic mutations at four Y-SNP loci on haplogroup R-M412/L51/S167, R-U152/S28, and L-M20 Y chromosomes. The affected Y-SNPs P41, P37, L202, and L203 mapped to a 37bp region on Yq11.21. Observing in multiple phylogenetic contexts up to four homoplasic mutations within such a short sequence tract is unlikely to result from a series of independent parallel mutations. Hence, we rather propose X-to-Y gene conversion as a more likely scenario. Practical implications arising from markers exhibiting paralogues on the Y chromosome or sites with a high propensity to recurrent mutation for database searches are addressed.
authors.affiliation: Institute of Legal Medicine, Innsbruck Medical University, Innsbruck, Austria.
authors.forename: Harald
authors.initials: H
authors.lastname: Niederstätter
authors.affiliation: Institute of Legal Medicine, Innsbruck Medical University, Innsbruck, Austria.
authors.forename: Burkhard
authors.initials: B
authors.lastname: Berger
authors.affiliation: Institute of Legal Medicine, Innsbruck Medical University, Innsbruck, Austria.
authors.forename: Daniel
authors.initials: D
authors.lastname: Erhart
authors.affiliation: Department of Forensic Genetics, Institute of Legal Medicine and Forensic Sciences, Charité-Universitätsmedizin, Berlin, Germany.
authors.forename: Sascha
authors.initials: S
authors.lastname: Willuweit
authors.affiliation: Department of Forensic Genetics, Institute of Legal Medicine and Forensic Sciences, Charité-Universitätsmedizin, Berlin, Germany.
authors.forename: Maria
authors.initials: M
authors.lastname: Geppert
authors.affiliation: Central Institute for Blood Transfusion & Immunological Department, Innsbruck, Austria; Blood Transfusion Service Zürich, SRC, Schlieren, Switzerland.
authors.forename: Christoph
authors.initials: C
authors.lastname: Gassner
authors.affiliation: Central Institute for Blood Transfusion & Immunological Department, Innsbruck, Austria.
authors.forename: Harald
authors.initials: H
authors.lastname: Schennach
authors.affiliation: Institute of Legal Medicine, Innsbruck Medical University, Innsbruck, Austria; Penn State Eberly College of Science, University Park, PA, USA. Electronic address: walther.parson@i-med.ac.at.
authors.forename: Walther
authors.initials: W
authors.lastname: Parson
authors.affiliation: Department of Forensic Genetics, Institute of Legal Medicine and Forensic Sciences, Charité-Universitätsmedizin, Berlin, Germany.
authors.forename: Lutz
authors.initials: L
authors.lastname: Roewer
mesh_terms: D001483:Base Sequence; D041322:Chromosomes, Human, Y; D006239:Haplotypes; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010088:Oxidoreductases / Q000235:genetics*; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D011544:Pseudogenes; D012689:Sequence Homology, Nucleic Acid
chemical_list: D010088:Oxidoreductases; C422653:RDH11 protein, human
keywords: Gametologues; Gene conversion; Homoplasy; Y-SNP; YHRD